Mitochondrial encephalomyopathies: Diagnostic approach

Annals of the New York Academy of Sciences

Volumn 1011, Issue , 2004, Pages 217-231

  DiMauro, Salvatore ^a   Tay, Stacey ^a   Mancuso, Michelangelo ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

Encephalomyopathies; Mitochondria

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC PROCEDURE; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; GENE CONTROL; GENETIC COUNSELING; GENETIC TRAIT; HISTOCHEMISTRY; HUMAN; KEARNS SAYRE SYNDROME; LABORATORY TEST; MEDICAL EXAMINATION; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; NEUROLOGIC EXAMINATION; PRENATAL DIAGNOSIS; RESPIRATORY CHAIN;

EID: 2342471811     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1196/annals.1293.022     Document Type: Conference Paper

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